P86T (p.Pro86Thr) variant of PAX8 (Paired box protein Pax-8)
P86T (p.Pro86Thr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- TOPMed rs1269341622
- gnomAD rs1269341622
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available